Canonical Allele Identifier: CA126994988
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs150355528

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128317368G>A , CM000667.2:g.128317368G>A GRCh38
NC_000005.9:g.127653060G>A , CM000667.1:g.127653060G>A GRCh37
NC_000005.8:g.127680959G>A NCBI36
NG_008750.1:g.225676C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1501+781C>T
ENST00000703785.1:n.1582+781C>T
ENST00000262464.9:c.4717+781C>T MANE Select ENSP00000262464.4:n.4717+781C>T
ENST00000262464.8:c.4717+781C>T ENSP00000262464.4:n.4717+781C>T
ENST00000508053.5:c.4717+781C>T ENSP00000424571.1:n.4717+781C>T
ENST00000619499.4:c.4714+781C>T ENSP00000482132.1:n.4714+781C>T
NM_001999.3:c.4717+781C>T NP_001990.2:n.4717+781C>T
XM_017009228.2:c.4564+781C>T XP_016864717.1:n.4564+781C>T
NM_001999.4:c.4717+781C>T MANE Select NP_001990.2:n.4717+781C>T